| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 151735234 | intron variant | -/A | ins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
1 | 68194522 | intron variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
5 | 89080244 | intron variant | A/C | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||||
|
17 | 44148179 | missense variant | A/C | snv | 0.40 | 0.48 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
6 | 151736875 | intron variant | A/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 151746109 | intron variant | A/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
8 | 118860712 | intron variant | A/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
8 | 119001230 | intron variant | A/C | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
8 | 119003821 | intron variant | A/C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 151628447 | intergenic variant | A/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
13 | 42359990 | intron variant | A/C | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
4 | 87852921 | regulatory region variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
8 | 119017470 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
6 | 151689119 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||||||
|
6 | 151536459 | intron variant | A/C;G | snv | 4.0E-06; 0.51 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
8 | 118945386 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
13 | 42401161 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
8 | 119004920 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
8 | 118940511 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
0.925 | 0.080 | 6 | 151628671 | intergenic variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
8 | 119007890 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
18 | 62387624 | 3 prime UTR variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||||||
|
0.882 | 0.160 | 6 | 151612040 | intron variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 3 | 2008 | 2009 | ||||||||
|
0.882 | 0.160 | 1 | 22371954 | intergenic variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 3 | 2008 | 2011 | ||||||||
|
2 | 54457420 | intron variant | A/G | snv | 0.76 |
|
0.800 | 1.000 | 2 | 2008 | 2018 |